Temtamy Shalash Syndrome

Classification according to ICD-10
Q87.8	Other malformations, not elsewhere classified
ICD-10 online (WHO version 2019)

The Temtamy-Shalash syndrome is a very rare congenital disease with the main features of mental retardation , acrocephalosyndactylia , coloboma , epilepsy , bar deficiency .

Synonyms are: craniofacial dysmorphism - coloboma - corpus callosum agenesis; Temtamy Syndrome; english Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation

The first description comes from 1991 by the US doctors SA Temtamy, BA Shalash and co-workers.

The syndrome should not be confused with Frank Temtamy syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in C12orf57 - gene on chromosome 12 locus p13.31 basis.

Clinical manifestations

Clinical criteria are:

• craniofacial dysmorphism such as macrodolichcephaly, long face, antimongoloid eyelids, deep-set ears, hypertelorism , bilateral colobomas, myopia , beak-shaped nose, long philtrum , microgeny and tooth anomalies
• Skeletal malformations such as brachydactyly , genu varum , pes planus
• Brain malformations such as corpus callosum agenesis with colpcephaly
• Change in the aorta

literature

• K. Platzer, I. Hüning, C. Obieglo, T. Schwarzmayr, R. Gabriel, TM Strom, G. Gillessen-Kaesbach, FJ Kaiser: Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. In: American journal of medical genetics. Part A. Volume 164A, number 8, August 2014, pp. 1976-1980, doi: 10.1002 / ajmg.a.36592 , PMID 24798461 (review).
• MA Salih, A. Tzschach, DT Oystreck, HH Hassan, A. AlDrees, SA Elmalik, HY El Khashab, TF Wienker, KK Abu-Amero, TM Bosley: A newly recognized autosomal recessive syndrome affecting neurologic function and vision. In: American journal of medical genetics. Part A. Volume 161A, number 6, June 2013, pp. 1207-1213, doi: 10.1002 / ajmg.a.35850 , PMID 23633300 .

Individual evidence

1. ↑ ^{a b c} Temtamy syndrome. In: Orphanet (Rare Disease Database).
2. ↑ N. Akizu, NM Shembesh, T. Ben-Omran, L. Bastaki, A. Al-Tawari, MS Zaki, R. Koul, E. Spencer, RO Rosti, E. Scott, E. Nickerson, S. Gabriel, G. da Gente, J. Li, MA Deardorff, LK Conlin, MA Horton, EH Zackai, EH Sherr, JG Gleeson: Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. In: American Journal of Human Genetics . Volume 92, number 3, March 2013, pp. 392-400, doi: 10.1016 / j.ajhg.2013.02.004 , PMID 23453666 , PMC 3591854 (free full text).
3. ^ SA Temtamy, MA Salam, EH Aboul-Ezz, HA Hussein, SA Helmy, BA Shalash: A new autosomal recessive MCA / MR syndrome with craniofacial dysmorphism, absent corpus callosum, iris colobomas and connective tissue dysplasia. (Abstract) In: American Journal of Human Genetis. Volume 49, Supplement, 1991, p. 167
4. ↑ SA Temtamy, MA Salam, EH Aboul-Ezz, HA Hussein, SA Helmy, BA Shalash: New autosomal recessive multiple congenital abnormalities / mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. In: Clinical dysmorphology. Volume 5, Number 3, July 1996, pp. 231-240, PMID 8818452 (review).
5. ↑ Temtamy syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links

• Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !